ABCA4 p.Trp41*
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PMID: 19074458
[PubMed]
Cideciyan AV et al: "ABCA4 disease progression and a proposed strategy for gene therapy."
No.
Sentence
Comment
50
P3 (W41X/R1098C) progressed from normal sensitivity (3.1 dB loss) at age 19 to a loss of 12.5 dB at age 27.
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ABCA4 p.Trp41* 19074458:50:4
status: NEW153 c Nt, amino-terminal domain; ECD-1 and ECD-2, exocytoplasmic domains 1 and 2; NBD-1 and NBD-2, nucleotide binding domains 1 and 2; TM5, TM6, TM7, TM12, within, near or between transmembrane helices 5, 6, 7 and 12. d W41X, R152X, Y245X, Y362X, W663X, M669del2tccAT, R681X and A1739 del11gcTGGGCTGGTGG. retina-wide blindness, the quality of life deteriorates dramatically with loss of mobility and independence.
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ABCA4 p.Trp41* 19074458:153:216
status: NEW